Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation

Nedaa Skeik, Thom W. Rooke, Mark Denis P. Davis, Dawn Marie R. Davis, Henna Kalsi, Ingo Kurth, Randal C. Richardson

Research output: Contribution to journalReview article

27 Scopus citations

Abstract

Erythromelalgia is a rare clinical syndrome characterized by intermittent heat, redness, swelling and pain more commonly affecting the lower extremities. Symptoms are mostly aggravated by warmth and are eased by a cold temperature. In some cases, symptoms can be very severe and disabling. Erythromelalgia can be classified as either familial or sporadic, with the familial form inherited in an autosomal dominant manner. Recently, there has been a lot of progress in studying Na(v)1.7 sodium channels (expressed mostly in the sympathetic and nociceptive small-diameter sensory neurons of the dorsal root ganglion) and different mutations affecting the encoding SCN9A gene that leads to channelopathies responsible for some disorders, including primary erythromelalgia. We present a severe case of progressive primary erythromelalgia caused by a new de novo heterozygous missense mutation (c.2623C>G) of the SCN9A gene which substitutes glutamine 875 by glutamic acid (p.Q875E). To our knowledge, this mutation has not been previously reported in the literature. We also provided a short literature review about erythromelalgia and Na(v) sodium channelopathies.

Original languageEnglish (US)
Pages (from-to)44-49
Number of pages6
JournalVascular Medicine
Volume17
Issue number1
DOIs
StatePublished - Feb 1 2012

Keywords

  • erythromelalgia
  • genetic mutations
  • sodium channelopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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    Skeik, N., Rooke, T. W., Davis, M. D. P., Davis, D. M. R., Kalsi, H., Kurth, I., & Richardson, R. C. (2012). Severe case and literature review of primary erythromelalgia: Novel SCN9A gene mutation. Vascular Medicine, 17(1), 44-49. https://doi.org/10.1177/1358863X11422584